title: [From gene to disease; spastin and hereditary spastic paraparesis].
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000502:physiology; D002889:Chromosomes, Human, Pair 2; D016368:Frameshift Mutation; D017353:Gene Deletion; D005799:Genes, Dominant / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human
vernacular_title: Van gen naar ziekte; spastine en hereditaire spastische paraparese.